CF is not just a lung disease

Cystic fibrosis is a rare, progressive, genetic disease that affects the lungs, pancreas, and other organs. Furthermore, CF is a complex disease and the types of symptoms and how severe they are can differ widely from person to person. Many factors can affect a person's health and the course the disease runs, including their age at diagnosis.

As people with CF live longer, their disease manifests in different ways, forcing them to confront new challenges related to life with CF, including infections, CF-related diabetes, gastrointestinal issues, reproductive health, and mental health.

CF is not contagious

Cystic fibrosis is a genetic disease that you are born with. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, resulting in dysfunctional CFTR protein. This leads to thick mucus buildup in the lungs, making it difficult to breathe and easy for germs to thrive. As a result, people with CF are more vulnerable to acquiring infections from others who are sick, particularly from others with CF. The Cystic Fibrosis Foundation's Infection Prevention and Control Guidelines help people with CF, their families, and caregivers reduce the spread of germs in everyday life.

Not all people with CF are diagnosed at birth 

While CF newborn screening has been universal for more than a decade in the U.S., each state has different processes for screening. These variations include how well the screen performs in identifying newborns with CF, how soon after birth a screen is completed, when the results are reported, when follow-up is completed, and when treatment is initiated. All these variations can contribute to a missed diagnosis, ultimately leading to disparities in treatment, care, and outcomes over time.

Cystic fibrosis can affect every racial and ethnic background

In Dorothy Andersen’s seminal paper, she described her initial findings of CF, noting that cases had been reported from around the globe, in people of varying ethnicity and socioeconomic status. The misconception that it is a “white person’s disease,” has contributed to health disparities in communities of color such as delayed or missed diagnoses. According to the 2022 Cystic Fibrosis Foundation Patient Registry, more than 15% of the registry’s participants self-identify as a person of color (Hispanic, Black, multiracial, Asian, or as other than white). Specifically:

• 10% of people identify as Hispanic
• 3.5% of people identify as Black or African American
• 2.0% of people identify as two or more races
• 0.5% of people identify as Asian

The Registry contains data from individuals diagnosed with CF who have consented to participate and were seen at a CF care center. While the Registry represents more than 80% of people with CF in the United States, it is not representative of the entire U.S. population, and it is believed that cases from persons of color are underreported in the Registry.

CF is not solely a pediatric disease

In the years following the initial discovery of the disease in 1938, children with CF rarely made it to adulthood. But, in the past few decades, the face of cystic fibrosis has changed. For a child born between 2018 and 2022, the median predicted age of survival is 56 years old — up from 38 years a decade prior. According to 2022 Registry data, 59.4% of individuals with CF are adults.

Today, there are close to 40,000 people in the United States with CF due in large part to more people living longer into adulthood. Evolutions in the multidisciplinary CF care model, advancements in research and treatments, and universal newborn screening have helped extend lives.

There is no cure for cystic fibrosis

While CFTR modulators (therapies targeting defects in the CFTR protein that cause CF) represent a tremendous advancement in treatment, they are not a cure, and not everyone can benefit.

There are more than 1,700 different mutations that cause CF. About 10% of people with CF have two rare mutations, around 2-3% of which might respond to CFTR modulators. The other approximately 7%, including the 3% with nonsense mutations, do not respond to modulator treatments. Moreover, there are some people who may be able to clinically benefit from modulators but cannot tolerate the therapy and must alter its dosage or forgo the therapy altogether. Advancements like Trikafta^® have — along with highly specialized care — contributed to improving quality of life and life expectancy for many, but not all with CF.

Additionally, modulator therapy cannot reverse or heal permanent organ damage, which is why it's especially important to start these therapies as early as possible. While a lung transplant may be a treatment option for people with cystic fibrosis who are facing advanced lung disease, a person with CF will continue to have CF after the transplant.